Results 121 to 130 of about 5,449,771 (353)

RELAGH - the challenge of having a scientific network in Latin America: an account from the presidents

Genetics and Molecular Biology, 2014
Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages.
Augusto Rojas-Martínez, Alejandro Giraldo-Ríos, Gerardo Jiménez-Arce, Aída Falcón de Vargas, Roberto Giugliani   +4 more
doaj   +1 more source

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Genetics in Medicine, 2022
J. Dungan, S. Klugman, S. Darilek, J. Malinowski, Yassmine M N Akkari, K. Monaghan, Angelika L Erwin, R. Best   +7 more
semanticscholar   +1 more source

Thermal proteome profiling and proteome analysis using high‐definition mass spectrometry demonstrate modulation of cholesterol biosynthesis by next‐generation galeterone analog VNPP433‐3β in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Elevated level of cholesterol is positively correlated to prostate cancer development and disease severity. Cholesterol‐lowering drugs, such as statins, are demonstrated to inhibit prostate cancer. VNPP433‐3β interrupts multiple signaling and metabolic pathways, including cholesterol biosynthesis, AR‐mediated transcription of several oncogenes, mRNA 5′
Retheesh S. Thankan, Elizabeth Thomas, Mehari M. Weldemariam, Puranik Purushottamachar, Weiliang Huang, Maureen A. Kane, Yuji Zhang, Nicholas Ambulos, Bi‐Dar Wang, David Weber, Vincent C. O. Njar   +10 more
wiley   +1 more source

Application of medical genetics in Turkey

The Turkish Journal of Pediatrics, 2007
Turkey is among the most populous countries of the world, and has a young population structure. The rate of consanguinity has been approximately 20-25% for the last 25 years. Various studies have shown that high consanguinity can be a contributing
Ergül Tunçbilek, Meral Ozgüç
doaj  

Elucidating prognostic significance of purine metabolism in colorectal cancer through integrating data from transcriptomic, immunohistochemical, and single‐cell RNA sequencing analysis

Molecular Oncology, EarlyView.
Low expression of five purine metabolism‐related genes (ADSL, APRT, ADCY3, NME3, NME6) was correlated with poor survival in colorectal cancer. Immunohistochemistry analysis showed that low NME3 (early stage) and low ADSL/NME6 (late stage) levels were associated with high risk.
Sungyeon Kim, Myunghee Kang, Soyeon Jeong, Jisup Kim, Kyoung Oh Kim, Won‐Suk Lee, Jeong‐Heum Baek, Jung Ho Kim, Seungyoon Nam   +8 more
wiley   +1 more source

Human Genetic Variation: A Flipped Classroom Exercise in Cultural Competency

MedEdPORTAL, 2013
Introduction Our understanding of human genetic variation has deepened through the Human Genome and International HapMap projects, which gave us a high-resolution view of human genetic variation and ancestry.
Shoumita Dasgupta, Katherine Tuttle
doaj   +1 more source

Progress of Education, Research and Services in Medical Genetics, in Some Institutions of Iran [PDF]

, 2009
The present paper is a review of progress and major activities in education, research, services and ethics in the field of medical genetics in some centers in Iran.
Akhondi, Mohammad Mehdi., Farhud, Daryoush., Hashemzadeh-Chaleshtori, Morteza., Lotfi, A. S., Sadighi, H.   +4 more
core   +1 more source

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
A. Gregg, M. Aarabi, S. Klugman, N. Leach, Michael T. Bashford, T. Goldwaser, E. Chen, T. Sparks, H. Reddi, A. Rajkovic, J. Dungan   +10 more
semanticscholar   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Human and medical genetics in Brazil

Genetics and Molecular Biology, 2000
The present paper intends to be a brief historical analysis of the conditions for the development of Human and Medical Genetics in Brazil.
Beiguelman Bernardo
doaj